NM_130837.3(OPA1):c.1035+4T>C
|
rs166850
|
0.88294
|
NM_130837.3(OPA1):c.844-135G>A
|
rs3736198
|
0.50229
|
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_130837.3(OPA1):c.556+178G>T
|
rs10937593
|
0.50218
|
NM_130837.3(OPA1):c.678+296G>A
|
rs9817704
|
0.50214
|
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)
|
rs9851685
|
0.50117
|
NM_130837.3(OPA1):c.2983+207A>G
|
rs13070610
|
0.49446
|
NM_130837.3(OPA1):c.2779-142T>C
|
rs10937594
|
0.47278
|
NM_130837.3(OPA1):c.1609-179G>A
|
rs2291373
|
0.46997
|
NM_130837.3(OPA1):c.1035+32T>C
|
rs10451941
|
0.44363
|
NM_130837.3(OPA1):c.611-233T>C
|
rs9832709
|
0.43335
|
NM_130837.3(OPA1):c.449-121A>G
|
rs7646539
|
0.43321
|
NM_130837.3(OPA1):c.679-120C>G
|
rs6791301
|
0.43277
|
NM_130837.3(OPA1):c.1478-147C>T
|
rs1016226
|
0.43267
|
NM_130837.3(OPA1):c.1608+295G>A
|
rs11916478
|
0.42975
|
NM_130837.3(OPA1):c.2983+206C>T
|
rs13070791
|
0.42899
|
NM_130837.3(OPA1):c.2872+25T>A
|
rs10937595
|
0.42744
|
NM_130837.3(OPA1):c.2441-234G>A
|
rs28457829
|
0.42710
|
NM_130837.3(OPA1):c.1754+265A>G
|
rs115569671
|
0.22318
|
NM_130837.3(OPA1):c.2984-126T>C
|
rs35661865
|
0.12197
|
NM_130837.3(OPA1):c.2441-98T>C
|
rs34558265
|
0.11790
|
NM_130837.3(OPA1):c.1754+106G>A
|
rs34222475
|
0.11760
|
NM_130837.3(OPA1):c.2332-323G>A
|
rs71316211
|
0.11744
|
NM_130837.3(OPA1):c.1935+16T>G
|
rs9831772
|
0.07649
|
NM_130837.3(OPA1):c.1609-75T>C
|
rs77539393
|
0.07331
|
NM_130837.3(OPA1):c.1608+23G>A
|
rs77303706
|
0.06432
|
NM_130837.3(OPA1):c.2178+253C>G
|
rs76855292
|
0.06098
|
NM_130837.3(OPA1):c.2872+178C>T
|
rs11928971
|
0.05948
|
NM_130837.3(OPA1):c.2179-81G>T
|
rs75116447
|
0.03783
|
NM_130837.3(OPA1):c.2661+306C>T
|
rs79665962
|
0.03765
|
NM_130837.3(OPA1):c.2778+11C>G
|
rs111688935
|
0.03759
|
NM_130837.3(OPA1):c.2984-250G>A
|
rs6776228
|
0.03582
|
NM_130837.3(OPA1):c.2983+23T>C
|
rs77034068
|
0.03253
|
NM_130837.3(OPA1):c.844-279G>A
|
rs3736197
|
0.03062
|
NM_130837.3(OPA1):c.1478-141G>A
|
rs112831553
|
0.03060
|
NM_130837.3(OPA1):c.449-21A>G
|
rs75213840
|
0.02640
|
NM_130837.3(OPA1):c.790-286T>C
|
rs75119504
|
0.02638
|
NM_130837.3(OPA1):c.351+180A>G
|
rs75414244
|
0.02637
|
NM_130837.3(OPA1):c.32+286C>T
|
rs6781575
|
0.02625
|
NM_130837.3(OPA1):c.1035+37A>C
|
rs76253392
|
0.02623
|
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)
|
rs34307082
|
0.02411
|
NM_130837.3(OPA1):c.1935+281A>G
|
rs76514410
|
0.02052
|
NM_130837.3(OPA1):c.351+275G>C
|
rs116457270
|
0.01710
|
NM_130837.3(OPA1):c.2983+128C>T
|
rs112787334
|
0.01207
|
NM_130837.3(OPA1):c.2331+115G>T
|
rs150732301
|
0.01129
|
NM_130837.3(OPA1):c.1871-66C>A
|
rs73888660
|
0.01075
|
NM_130837.3(OPA1):c.1935+47T>A
|
rs144015601
|
0.00834
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_130837.3(OPA1):c.2332-265T>G
|
rs12635939
|
0.00755
|
NM_130837.3(OPA1):c.2779-149T>C
|
rs74450886
|
0.00754
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_130837.3(OPA1):c.678+235T>C
|
rs73067661
|
0.00744
|
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)
|
rs117475774
|
0.00742
|
NM_130837.3(OPA1):c.1477+32A>G
|
rs116806904
|
0.00724
|
NM_130837.3(OPA1):c.1231-53T>G
|
rs2306720
|
0.00723
|
NM_130837.3(OPA1):c.2778+258A>T
|
rs58859883
|
0.00722
|
NM_130837.3(OPA1):c.1150-161A>G
|
rs57034161
|
0.00614
|
NM_130837.3(OPA1):c.1306-109A>T
|
rs115482686
|
0.00610
|
NM_130837.3(OPA1):c.1608+290C>G
|
rs59046055
|
0.00607
|
NM_130837.3(OPA1):c.679-8C>T
|
rs114348597
|
0.00589
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_130837.3(OPA1):c.1306-55T>A
|
rs139613408
|
0.00574
|
NM_130837.3(OPA1):c.1149+178G>A
|
rs139627835
|
0.00548
|
NM_130837.3(OPA1):c.1377+38A>T
|
rs145646386
|
0.00532
|
NM_130837.3(OPA1):c.2779-290A>G
|
rs149979555
|
0.00501
|
NM_130837.3(OPA1):c.1035+324G>A
|
rs115055890
|
0.00477
|
NM_130837.3(OPA1):c.2441-134G>C
|
rs375372517
|
0.00450
|
NM_130837.3(OPA1):c.1608+138G>A
|
rs4638913
|
0.00417
|
NM_130837.3(OPA1):c.843+274A>G
|
rs142161446
|
0.00416
|
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)
|
rs149752576
|
0.00229
|
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)
|
rs75414918
|
0.00229
|
NM_130837.3(OPA1):c.321G>A (p.Ser107=)
|
rs117888848
|
0.00212
|
NM_130837.3(OPA1):c.2179-23T>C
|
rs76076252
|
0.00205
|
NM_130837.3(OPA1):c.2179-24T>G
|
rs78911544
|
0.00205
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_130837.3(OPA1):c.2872+15G>C
|
rs199763700
|
0.00136
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)
|
rs144898877
|
0.00109
|
NM_130837.3(OPA1):c.610+33A>T
|
rs79606277
|
0.00106
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_130837.3(OPA1):c.949-11A>C
|
rs376681712
|
0.00094
|
NM_130837.3(OPA1):c.748G>A (p.Ala250Thr)
|
rs143918255
|
0.00085
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_130837.3(OPA1):c.32+14C>T
|
rs201927764
|
0.00054
|
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)
|
rs139861334
|
0.00050
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00042
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_130837.3(OPA1):c.1378-25G>C
|
rs148392527
|
0.00034
|
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)
|
rs114157340
|
0.00029
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_130837.3(OPA1):c.2441-4dup
|
rs761286590
|
0.00019
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00019
|
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)
|
rs148834015
|
0.00018
|
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)
|
rs190235251
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
|
rs111488647
|
0.00016
|
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)
|
rs150279202
|
0.00016
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_130837.3(OPA1):c.2319G>A (p.Ala773=)
|
rs144690080
|
0.00007
|
NM_130837.3(OPA1):c.1377+10T>C
|
rs200114656
|
0.00006
|
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)
|
rs140606054
|
0.00006
|
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln)
|
rs147077380
|
0.00006
|
NM_130837.3(OPA1):c.2331+10T>C
|
rs371096629
|
0.00005
|
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys)
|
rs758248456
|
0.00005
|
NM_130837.3(OPA1):c.737C>T (p.Ala246Val)
|
rs147094219
|
0.00005
|
NM_130837.3(OPA1):c.844-4G>A
|
rs377043223
|
0.00005
|
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)
|
rs141326740
|
0.00004
|
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg)
|
rs770966290
|
0.00004
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_130837.3(OPA1):c.381G>A (p.Pro127=)
|
rs774996101
|
0.00004
|
NM_130837.3(OPA1):c.534A>G (p.Leu178=)
|
rs758901451
|
0.00004
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
0.00004
|
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys)
|
rs569675223
|
0.00004
|
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala)
|
rs756981921
|
0.00003
|
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr)
|
rs777179811
|
0.00003
|
NM_130837.3(OPA1):c.2045G>A (p.Arg682Lys)
|
rs772040791
|
0.00003
|
NM_130837.3(OPA1):c.448+50A>G
|
rs377239493
|
0.00003
|
NM_130837.3(OPA1):c.542A>G (p.Asp181Gly)
|
rs138884045
|
0.00003
|
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)
|
rs146003075
|
0.00002
|
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp)
|
rs752296610
|
0.00002
|
NM_130837.3(OPA1):c.1690T>C (p.Ser564Pro)
|
rs1467607281
|
0.00002
|
NM_130837.3(OPA1):c.2028A>G (p.Gln676=)
|
rs773826671
|
0.00002
|
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)
|
rs532878175
|
0.00002
|
NM_130837.3(OPA1):c.2644G>A (p.Glu882Lys)
|
rs765208285
|
0.00002
|
NM_130837.3(OPA1):c.2812A>G (p.Ile938Val)
|
rs149866497
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
NM_130837.3(OPA1):c.740G>A (p.Arg247His)
|
rs138350727
|
0.00002
|
NM_130837.3(OPA1):c.964A>G (p.Met322Val)
|
rs938874214
|
0.00002
|
NM_130837.3(OPA1):c.*5+1G>T
|
rs1250028962
|
0.00001
|
NM_130837.3(OPA1):c.*6-13T>C
|
rs1243357575
|
0.00001
|
NM_130837.3(OPA1):c.-10C>T
|
rs775614028
|
0.00001
|
NM_130837.3(OPA1):c.1100G>A (p.Arg367Gln)
|
rs372878876
|
0.00001
|
NM_130837.3(OPA1):c.1135C>T (p.Arg379Cys)
|
rs552243068
|
0.00001
|
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln)
|
rs866025924
|
0.00001
|
NM_130837.3(OPA1):c.1150-2A>G
|
rs886041317
|
0.00001
|
NM_130837.3(OPA1):c.1168C>T (p.Pro390Ser)
|
rs1057524630
|
0.00001
|
NM_130837.3(OPA1):c.1176T>C (p.His392=)
|
rs372782168
|
0.00001
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
NM_130837.3(OPA1):c.1347G>A (p.Met449Ile)
|
rs377726977
|
0.00001
|
NM_130837.3(OPA1):c.1377+9A>G
|
rs759086025
|
0.00001
|
NM_130837.3(OPA1):c.2006A>T (p.Lys669Ile)
|
rs146601330
|
0.00001
|
NM_130837.3(OPA1):c.2012+7A>G
|
rs767488490
|
0.00001
|
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)
|
rs750775588
|
0.00001
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
NM_130837.3(OPA1):c.2168A>C (p.Lys723Thr)
|
rs1713442826
|
0.00001
|
NM_130837.3(OPA1):c.2193C>G (p.Thr731=)
|
rs757675899
|
0.00001
|
NM_130837.3(OPA1):c.2212C>T (p.Arg738Cys)
|
rs1714040834
|
0.00001
|
NM_130837.3(OPA1):c.2229G>A (p.Pro743=)
|
rs768448865
|
0.00001
|
NM_130837.3(OPA1):c.2348A>G (p.Asn783Ser)
|
rs749143995
|
0.00001
|
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)
|
rs762258708
|
0.00001
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
NM_130837.3(OPA1):c.2618G>A (p.Arg873Gln)
|
rs954754062
|
0.00001
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
NM_130837.3(OPA1):c.2983+84C>T
|
rs573137605
|
0.00001
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
NM_130837.3(OPA1):c.464C>T (p.Ala155Val)
|
rs751318725
|
0.00001
|
NM_130837.3(OPA1):c.49T>A (p.Leu17Ile)
|
rs760770105
|
0.00001
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
NM_130837.3(OPA1):c.590C>G (p.Ser197Cys)
|
rs1729303601
|
0.00001
|
NM_130837.3(OPA1):c.626C>T (p.Thr209Met)
|
rs772596317
|
0.00001
|
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)
|
rs367814426
|
0.00001
|
NM_130837.3(OPA1):c.821A>G (p.Gln274Arg)
|
rs1258694003
|
0.00001
|
NM_130837.3(OPA1):c.860T>C (p.Ile287Thr)
|
rs951002467
|
0.00001
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
NM_130837.3(OPA1):c.902T>C (p.Leu301Ser)
|
rs1488795500
|
0.00001
|
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
|
|
|
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
|
|
|
NM_130837.3(OPA1):c.-11C>G
|
rs568049951
|
|
NM_130837.3(OPA1):c.1006A>C (p.Ser336Arg)
|
|
|
NM_130837.3(OPA1):c.1007G>A (p.Ser336Asn)
|
|
|
NM_130837.3(OPA1):c.1018C>T (p.Gln340Ter)
|
rs1048376563
|
|
NM_130837.3(OPA1):c.1019A>C (p.Gln340Pro)
|
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+3A>G
|
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.1036-1G>A
|
rs863224130
|
|
NM_130837.3(OPA1):c.1036-6G>A
|
rs1553876585
|
|
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)
|
rs1553876590
|
|
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe)
|
rs863224131
|
|
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)
|
rs2109014902
|
|
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
|
|
|
NM_130837.3(OPA1):c.1126A>G (p.Met376Val)
|
rs863224132
|
|
NM_130837.3(OPA1):c.1135C>G (p.Arg379Gly)
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1189A>G (p.Lys397Glu)
|
rs1057517999
|
|
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)
|
rs1180256773
|
|
NM_130837.3(OPA1):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_130837.3(OPA1):c.1288T>C (p.Cys430Arg)
|
|
|
NM_130837.3(OPA1):c.1305+128del
|
rs112385163
|
|
NM_130837.3(OPA1):c.1305+128dup
|
rs112385163
|
|
NM_130837.3(OPA1):c.1352T>A (p.Leu451His)
|
rs727504060
|
|
NM_130837.3(OPA1):c.1373T>C (p.Ile458Thr)
|
rs863224135
|
|
NM_130837.3(OPA1):c.1377+5G>T
|
rs863224136
|
|
NM_130837.3(OPA1):c.1377+5del
|
rs2109043788
|
|
NM_130837.3(OPA1):c.1411G>A (p.Glu471Lys)
|
|
|
NM_130837.3(OPA1):c.1417_1418del (p.Ile473fs)
|
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)
|
rs863225277
|
|
NM_130837.3(OPA1):c.1490A>C (p.Asp497Ala)
|
rs1064795743
|
|
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
|
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.1549A>C (p.Thr517Pro)
|
rs1553878117
|
|
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
NM_130837.3(OPA1):c.1609-294G>A
|
rs140947578
|
|
NM_130837.3(OPA1):c.1639C>A (p.Pro547Thr)
|
rs2109057610
|
|
NM_130837.3(OPA1):c.1681+1G>C
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+1G>T
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_130837.3(OPA1):c.1715A>T (p.Glu572Val)
|
|
|
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)
|
rs538099724
|
|
NM_130837.3(OPA1):c.1754+270_1754+273del
|
rs71637116
|
|
NM_130837.3(OPA1):c.182A>G (p.Gln61Arg)
|
rs558532319
|
|
NM_130837.3(OPA1):c.1871-19A>C
|
rs1057522968
|
|
NM_130837.3(OPA1):c.1935+177_1935+180del
|
rs146802653
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.1935+51T>G
|
rs9831900
|
|
NM_130837.3(OPA1):c.1936-21_1936-18del
|
rs765277368
|
|
NM_130837.3(OPA1):c.193C>G (p.Leu65Val)
|
|
|
NM_130837.3(OPA1):c.1985G>A (p.Ser662Asn)
|
rs2109083949
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
NM_130837.3(OPA1):c.1A>T (p.Met1Leu)
|
|
|
NM_130837.3(OPA1):c.2012+1G>C
|
rs863224134
|
|
NM_130837.3(OPA1):c.2012+1G>T
|
rs863224134
|
|
NM_130837.3(OPA1):c.2013-10_2013-8del
|
rs781060459
|
|
NM_130837.3(OPA1):c.2046_2047del (p.Arg682fs)
|
|
|
NM_130837.3(OPA1):c.2057A>G (p.His686Arg)
|
|
|
NM_130837.3(OPA1):c.2084C>T (p.Ala695Val)
|
rs2109139144
|
|
NM_130837.3(OPA1):c.2097G>A (p.Met699Ile)
|
|
|
NM_130837.3(OPA1):c.2132A>C (p.Lys711Thr)
|
rs2109139390
|
|
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg)
|
rs1553881180
|
|
NM_130837.3(OPA1):c.2149G>T (p.Asp717Tyr)
|
rs1379001496
|
|
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
|
rs755591067
|
|
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)
|
rs794726939
|
|
NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg)
|
rs2109164239
|
|
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)
|
rs1553784985
|
|
NM_130837.3(OPA1):c.2395G>A (p.Ala799Thr)
|
rs2109186848
|
|
NM_130837.3(OPA1):c.2441-13T>A
|
rs773828534
|
|
NM_130837.3(OPA1):c.2502G>T (p.Lys834Asn)
|
rs2109193504
|
|
NM_130837.3(OPA1):c.2520+4G>A
|
rs1577307342
|
|
NM_130837.3(OPA1):c.2521-155del
|
rs3214982
|
|
NM_130837.3(OPA1):c.2569A>G (p.Asn857Asp)
|
rs2109231506
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2661+4A>C
|
|
|
NM_130837.3(OPA1):c.2661+4_2661+5delinsGTAAC
|
rs863224143
|
|
NM_130837.3(OPA1):c.272C>G (p.Ala91Gly)
|
rs1085307621
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2778+279_2778+280insAGTAA
|
rs60242040
|
|
NM_130837.3(OPA1):c.2779-112A>G
|
rs10804957
|
|
NM_130837.3(OPA1):c.2840A>C (p.Asn947Thr)
|
rs750518068
|
|
NM_130837.3(OPA1):c.2873-10C>G
|
rs2109277041
|
|
NM_130837.3(OPA1):c.2873-2A>G
|
rs886041438
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2885A>G (p.Glu962Gly)
|
rs863224138
|
|
NM_130837.3(OPA1):c.2892_2896del (p.Asn964fs)
|
rs1553787992
|
|
NM_130837.3(OPA1):c.2902G>A (p.Val968Ile)
|
rs863224139
|
|
NM_130837.3(OPA1):c.2902G>T (p.Val968Leu)
|
rs863224139
|
|
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)
|
rs117475774
|
|
NM_130837.3(OPA1):c.2984-1_2986del
|
rs2109460398
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.3040G>C (p.Glu1014Gln)
|
rs2109460771
|
|
NM_130837.3(OPA1):c.305A>C (p.Tyr102Ser)
|
rs530896300
|
|
NM_130837.3(OPA1):c.33-91TG[4]
|
rs58340380
|
|
NM_130837.3(OPA1):c.351+228dup
|
rs111333949
|
|
NM_130837.3(OPA1):c.351+78G>A
|
rs113990764
|
|
NM_130837.3(OPA1):c.417T>G (p.Ile139Met)
|
rs1446797783
|
|
NM_130837.3(OPA1):c.418G>A (p.Val140Met)
|
|
|
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
|
|
|
NM_130837.3(OPA1):c.446T>G (p.Phe149Cys)
|
rs2108869401
|
|
NM_130837.3(OPA1):c.516T>G (p.Ile172Met)
|
rs863224126
|
|
NM_130837.3(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer)
|
rs863224141
|
|
NM_130837.3(OPA1):c.576A>T (p.Glu192Asp)
|
rs2108882278
|
|
NM_130837.3(OPA1):c.611-19T>C
|
rs3772393
|
|
NM_130837.3(OPA1):c.679-301dup
|
rs35044042
|
|
NM_130837.3(OPA1):c.679-7G>T
|
rs373326620
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu)
|
rs1131691832
|
|
NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)
|
|
|
NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
|
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
rs201202646
|
|
NM_130837.3(OPA1):c.789+27G>C
|
rs151279038
|
|
NM_130837.3(OPA1):c.794C>T (p.Ser265Leu)
|
rs1553875179
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)
|
rs863224142
|
|
NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter)
|
rs863224128
|
|
NM_130837.3(OPA1):c.949-12_949-11insTA
|
rs544490050
|
|
NM_130837.3(OPA1):c.959_962del (p.Ile320fs)
|
rs1064794208
|
|